Neuroradiology
Case TypeClinical Cases
AuthorsEliza Stavride, Katerina Manavi, Melpomeni Kosmidou, Charikleia Mavridou, Filippos Sarafis, Ioannis Tsitouridis
Patient6 years, male
[1] Oberholzer VG, Levin B, Burgess EA, Young WF (1967) Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Archives of Disease in Childhood 42: 492-504 (PMID: 6061291)
[2] Manoli I, Sloan JL, Venditti CP (2016) Isolated Methylmalonic Acidemia. Gene Reviews (PMID: 20301409)
[3] Genetics Home Reference (2017) Methylmalonic Acidemia (https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia#sourcesforpage). U.S National Library of Medicine
[4] Mahmud S, Awais UI Hassan Shah S, Ali S (2015) Methylmalonic Acidemia. J Coll Physicians Surg Pak 25(6):462-4 (PMID: 26101005)
[5] Radmanesh A, Zaman T, Ghanaati H, Molaei S, Robertson RL, Zamani AA (2008) Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. Pediatr Radiol 38(10): 1054-61 (PMID: 18636250)
[6] Warren Chang, Neilesh Gupta, Dawn Duane, Patrick Barnes, Kristen Yeom (2012) Atypical imaging findings in the setting of methylmalonic acidemia in an infant. Radiology Case Reports Volume 7, Issue 4, Article 749 (PMID: 27330598)
[7] Parayl Sankaran Bindu, Jerry M.E. Kovoor, Rita Christopher (2010) Teaching NeuroImages: MRI in methylmalonic acidemia.
URL: | https://eurorad.org/case/15037 |
DOI: | 10.1594/EURORAD/CASE.15037 |
ISSN: | 1563-4086 |
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.